Galuh N. Astuti

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 38 publications

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: March 27, 2026

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Journal: Nature genetics

Published: January 06, 2026

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.

Journal: Investigative ophthalmology & visual science

Published: June 04, 2025

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Journal: Nature genetics

Published: June 02, 2025

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Journal: Nature genetics

Published: April 11, 2025

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Journal: medRxiv : the preprint server for health sciences

Published: January 20, 2025

Detection of human cytomegalovirus cell-free DNA in pregnant women with symptomatically infected fetuses: proof-of-concept study.

Detection of human cytomegalovirus cell-free DNA in pregnant women with symptomatically infected fetuses: proof-of-concept study.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: September 06, 2024

Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

Journal: Human genetics

Published: July 29, 2024

Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.

Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.

Journal: Frontiers in genetics

Published: July 24, 2024

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

Journal: Clinical immunology (Orlando, Fla.)

Published: June 11, 2024

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Journal: medRxiv : the preprint server for health sciences

Published: May 15, 2024

Automatized detection of uniparental disomies in a large cohort.

Automatized detection of uniparental disomies in a large cohort.

Journal: Human genetics

Published: April 16, 2024

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Last Updated: 09/26/2026